Which hypertension syndromes are characterized by low cortisol levels and abnormal sex hormones

Which hypertension syndromes are characterized by low cortisol levels and abnormal sex hormones?

Congenital adrenal hyperplasia (CAH) refers to several autosomal recessive conditions caused by mutations in genes mediating biochemical steroidogenesis in the adrenal gland. In CAH, the adrenal glands secrete excessive or deficient amounts of sex hormones and mineralocorticoids during prenatal development. Low cortisol production is characteristic of these conditions. CAH is often classified into the common “salt-wasting” forms, mostly due to 21-α-hydroxylase mutations, and the rare nonclassical forms (<10%), which are associated with hypertension due to increased ACTH production. Bi-allelic loss-of-function mutations in CYP11B1 (11-β-hydroxylase) or CYP17A1 (17-α-hydroxylase) can cause CAH associated with hypertension. In CAH, both cortisol and sex steroid levels are altered, leading to increased mineralocorticoid precursor production (mainly 11-deoxy-corticosterone, deoxycorticosterone [pDOC], and corticosterone) and activating the MR. Patients typically develop childhood hypertension caused by volume expansion associated hypokalemia and metabolic alkalosis. Treatment with glucocorticoids suppresses ACTH, thereby reducing mineralocorticoid precursor production and lowering the blood pressure. In 11-β-hydroxylase deficiency, female virilization is common, and in 17-α-hydroxylase deficiency, genetic males feature ambiguous genitalia and females can have failure to ovulate.

15585

Sign up to receive the trending updates and tons of Health Tips

Join SeekhealthZ and never miss the latest health information

15856